Cure for Down syndrome promised with just a single injection

If you could give your loved one with Down syndrome a shot that would eliminate their extra 21st Chromosome, would you? This may be a very real question in the not too distant future. 

On November 27, 2017, it was reported that Chinese researchers had eliminated whole chromosomes in living organisms with gene-editing injections. Due to the hyper-technical language of the report, the potential ramifications have received little coverage.

Here is the lede from the news report:

the researchers developed an approach that used either multiple cleavages induced by one or two single-guide RNAs (sgRNA) that targets multiple chromosome-specific sites or a combination of 14 sgRNAs, each targeting a specific site, to selectively eliminate a sex chromosome in cultured cells, embryos, and tissues in vivo.

Like I said, the hyper-technical language buries the significance of this development. Translated, as best I understand this science:

researchers used gene-editing technology to eliminate sex chromosomes in cells, embryos, and in tissues of living animals.

But the researchers did not stop with the sex chromosomes. From the same GenomeWeb report:

The researchers next looked at whether they could eliminate an extra chromosome in aneuploid cells using CRISPR-Cas9 editing. They focused on an ES cell line with an extra human chromosome 14 (hChr14). … They were also able to apply this method to promote human chromosome 7 loss in human cancer cell line HT-29, which contains four hChr7s in most cells, and extra human chromosome 21 loss in aneuploid mouse ES cell lines derived from mice with Down syndrome.

(emphasis added). Again, translated:

The researchers then used CRISPR (a gene-editing technology) to eliminate an extra human chromosome 14 and chromosome 7 in human cell lines, and to eliminate the extra 21st chromosome in cells taken from mouse models with Down syndrome.

The report concludes:

The authors concluded that this is the first study that they know of to use CRISPR to eliminate X and autosome chromosomes, and as such, “it paves the way for a potential genetic approach to chromosome therapy in vivo.” It also offers “a new approach to develop animal models with chromosome deletions, and a potential therapeutic strategy for human aneuploidy diseases involving additional chromosomes,” they added.

Translated with the focus on “aneuploidy diseases”:

The authors concluded that this is the first study they know of to use CRISPR as potential chromosome therapy in living organisms with the potential for eliminating the extra 21st chromosome that is the cause for Down syndrome.

As a result of this research, then, if it progresses, it promises the potential of injecting individuals with Down syndrome with the CRISPR technology to eliminate the extra 21st chromosome.

This is revolutionary and would be world changing. But, that is not to mean it would be a change for the better.

Not too many years ago, a researcher published findings where her team was able to “turn off” the extra 21st chromosome in cells. The application of that technology, however, was limited to “treating” Down syndrome in an IVF cycle.

This new research now suggests the possibility of giving a person with Down syndrome a shot and the extra 21st chromosome would be eliminated. The individual would go from having 47 chromosomes, to having 46 like most everyone else. Should this possibility become a reality, undoubtedly, most will hail it has an amazing “cure” for Down syndrome–an unmitigated positive for eliminating a condition associated with intellectual disability and a range of health issues.

It will completely change the dynamic of prenatal testing. Instead of simply testing for a condition with no in utero or ex utero treatment, parents receiving a prenatal or postnatal diagnosis could then be asked if they wanted the CRISPR shot to eliminate the extra 21st chromosome.

And, not just new parents. Parents of older children would have it as an option.

Should this future come into existence, headlines will likely report that Down syndrome is being eliminated, at least in societies where the CRISPR shot is available on a widespread basis. New and expectant parents, it can be expected, will almost universally choose to have the shot, seeing it as a “cure,” a “treatment,” a blessing, even a miracle.

For parents of older children, it will be less of a universal uptake. Having gotten to know their child with Down syndrome, accepted and loved their child, and advocated for their child for years to be accepted for who they are, these parents will face a dilemma: “cure” their child and open up options and possibilities that may have been limited or foreclosed, or opt-out of the treatment and face criticism for choosing to disable their child.

For individuals with Down syndrome themselves who are competent to make their own medical decisions, they, too, will be given the option: remain how they’ve always known themselves, or, take a shot and potentially eliminate the challenges that peers and crass strangers have teased them for and gain capabilities to do things they’ve always wanted to do.

But, will the new and expectant parents, the parents of older children, and the individuals with Down syndrome facing the choice be fully counseled about the effects of the CRISPR shot. Putting aside the risk of mutations (which in the study were rare, but did occur), how can anyone adequately counsel about such a fundamental alteration to a person?

Perhaps the research will falter. Maybe it will only apply in limited situations. But, the news report does give us the opportunity to ask ourselves important questions:

If there was a cure for Down syndrome, would you choose it for your child and why?

Should Down syndrome be “cured”?

Is there something unique about having individuals with Down syndrome in society that they should be “conserved” rather than “eliminated”?

I welcome your answers to these questions in the comments.

 

Comments

  1. Jolanda Wolff says

    Someone asked me once: if there was a doctor
    who could cure your son from downsydrome would you go there? I was hesitating but my doughter replied: no mama I would never allow you because then Daniël isn’t Daniël anymore!

  2. If I could give the world a shot that would eliminate bias and prejudice towards people with Down syndrome I’d do that without a doubt. And let my children be. There is definitely something unique that comes with Down syndrome. Their ‘vulnerability’ comes to mind, a total lack of fear of being rejected for being open towards others; generous with hugs and other expressions of love. There is also something very frightening about the desire to ‘cure’ people for having traits that cannot be measured in money, success, productivity. That’s my short answer.

    • Celeste Connor says

      Removing the 3rd copy of the 21st chromosome only guarantees an individual will not have Down Syndrome. It does NOT guarantee they will not have health issues or intellectual disabilities, some or all of which may be the same or worse as those they would have had if they had DS. My belief is that we are created as we are intended to be, each perfect in uniqueness. To manipulate the genome violates that spontaneous, unique creation.

  3. We should decide if we really want to be a diverse society or if we want to narrow the gene pool, nothing can go wrong with that idea, can it?
    Maybe I’m naive, but I would be surprised if any chromosome survives in ‘splendid isolation’ waiting to be ‘eliminated’ with no adverse effects. I think we are much more complex than that.

  4. Charlene Pagac says

    If it were a guarantee that the quality of life for my son would improve I would say yes. I would not agree to it if there were risks to his health.

  5. Why on earth would anyone want to cure down syndrome. Without our children having this wonderful life that God created on them. More ppl have learned to accept, appreciate, encourage, be more inclusive, empathetic, and more well rounded ppl simply because they have family or friends with it. If I wanted a shot created to eliminate anything in our world , it would have to be for all the discrimination to be gone.

  6. I would agree to it if there is a guarantee that my daughter would be free from dawn syndrome without side effects

  7. Jane Daulton says

    It seems like designer genes to me. What’s next? I have nine kids with DS and they run the gamut in abilities and their challenges are varied. They are a happy group and have changed many lives for the good. Everyone has different abilities and challenges. We don’t get a shot to make life easier. I would hope they would do research on how to offset early Alzheimer’s for this people group

  8. Leila van der Giessen says

    If there were no side effects, I would do it because my son’s communication skills are extremely limited; I would absolutely love to know what my son is thinking and feeling. But we love him regardless and are happy he is in our lives.

  9. Yes I would by all means. There is nothing good coming from an extra chromosome but hoard of diseases and society treating you in a certain way

    • Do you have a child with Down syndrome and, if so, what “hoard,” to use your word, of diseases does he or she have because of the extra chromosome?

  10. Of course I want a better quality of life for my son. I believe I would do this if it were an option for me. My son has significant speech delays that are never going to improve. What I wouldn’t give to hear “I love you, Mom.” When he’s sick, he can’t vocalize his symptoms, or even tell me when he’s unwell. I could cite many examples of how he would benefit from this. Now, a world without DS, not sure how I feel about that.

  11. Since I have way to much to say on this I will only say the most important .
    Down syndrome is NOT a disease, you can not “cure” it.

  12. Nancy Combow says

    As a parent of a child with Down syndrome, I love him exactly the way he is. If this shot becomes a reality, I would let my son decide.
    Is anyone wondering why there is a cure for Down syndrome but not a cure for cancer?

  13. cosmicmaggot says

    Oh bullshit! The extent of this kind of gene therapies would be so problematic… gene reversion would have to occur on such a massive scale… I would foresee the patient’s immune response to the “foreign” cells being fatal. What about neurological and cognitive capability? Again, the genes would need to be re-written… what would that do to memory? Wipe it? Distort it? Would the person remember themself and loved ones? Ethical and moral concerns come into play, as well… are we as a civilization/ spevies/culture mature enough to wield such a powerful tool? If “repair” of the chromosome is possible… what cascading effects could arise? What are the dangers of other genetic therapies which change the individual’s DNA? Think along the lines of GMO crop plants that have already been altered with genes from other organisms to produce more edible parts or compounds to ward off pests and diseases? Because we CAN do a thing doesn’t necessarily mean we SHOULD do a thing. As parents of someone with DS, we’d be thrilled to see our son live a more “vanilla” life… but what secondary or collateral effects could be unleashed upon the human genome in general? One question posed by this article regarding whether people with DS serve a purpose in our civilization brought something home to me in a very deep way. I learned to love and care about an individual I would previously seen as a societal burden. What kind of person would I now be without him?

    • Aside from the swearing, I’m glad the post served its purpose of raising these questions that we would be better served asking ourselves now rather than when such a fundamental “therapy” will become offered, should science continue to progress as it has in genomics.

      • yes, my hope as a parent of a young child whom i love dearly that science will continue to progress and DS population will be included in this progress. I find it troubling that some parents are hostile to research advances. I would like researchers know that there are parents who are following and supporting research and are very much interested in the next steps: e;.g., testing for safety.

  14. I have way more questions as to how this “cures”‘Down syndrome? I mean, the effects are already there. Three open heart surgeries, low tone, speech delay…etc.. How is it going to change these individuals? I can’t imagine my child being anything then who she is but I hate all the medical problems that come with it. So maybe….

  15. Down syndrome IS now classed as a neuro degenerative disease! It is not just a syndrome, that can’t be treated, it is a medical condition where the extra “switched on “ gene goes on to cause all sorts of problems and also leads to faster cognitive decline. Why would you accept medical treatment for another condition but not Down syndrome. For too long it’s been drummed into us that we just have to live and watch our loved ones struggle with lots of different issues ranging from heart/bowel defects to hearing loss, eye problems, speech/eating issues, the list is endless, and that it’s just Down syndrome. It’s not a “cure” for Down syndrome, it would be eradicating all of these heartbreaking issues that people with genetic abnormalities have to deal with. Surely everyone deserves the best start in life. Even after saying all that, I’m still not sure how I feel about it, I can see both sides!

  16. Can you please advise me to help daughter to remove the extra chromosome.is this method will be helpfull.she is two months now.can you suggest me which hospital should i preferr

    • There is no existing method for removing the extra chromosome in a person with Down syndrome. This post discusses a hypothetical based on early reports of removing the chromosome in cells in the lab.

  17. To answer a question in the article…as the mother of a 26 year old beautiful daughter with DS, my husband and I worry everyday about my daughter and who will care for her when we are gone. No one will care for her the way we do or, if she could, the way she would care for herself. I would “cure” my daughter. We are a very happy upbeat fun family. She loves music, loves to dance, etc. but I see the frustration in her face when she can’t read books, speak clear, walk as far as others, etc. due to her disability. My daughter is overweight (slower metabolism), has little focus, and other issues caused by the DS. If there are no or minimal side affects to a treatment, my husband and I will do whatever my daughter needs for a better quality of life for our daughter. In the event the treatment changed her into a whole other person we would just enjoy getting to know her all over again.

  18. Emilia Garza says

    It’s sad that people react without any remorse or real love to down syndrome people
    Probably because they are not who are suffering from the rejection and impotency to live a normal life if there’s nothing harmful to their health and only improvement for just living better a normal life with all the same love that I have for my sunshine grandson I will give him the chance to a better healthy life I’m praying for a cure for him so he can speak,hear,think clearly because even speech is not helping enough and I see his dessesperation to be understood
    My love for him will no be changed